BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: FLNA

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; find_uk10k; gilissen_2014_known; UKGTN_v12; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function; Uncertain; All missense/in frame

Created: 7 Feb 2017, 4:22 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Heterotopia, periventricular, 300049; Otopalatodigital syndrome, type I, 311300; Otopalatodigital syndrome, type II, 304120; Intestinal pseudoobstruction, neuronal, 300048; Melnick-Needles syndrome, 309350; Frontometaphyseal dysplasia, 305620; Heterotopia, periventricular, ED variant, 300537; FG syndrome 2, 300321; Cardiac valvular dysplasia, X-linked, 314400; Terminal osseous dysplasia, 300244; Congenital short bowel syndrome, 300048

Variants in this GENE are reported as part of current diagnostic practice